Canonical Allele Identifier: CA322394
Gene: PDHA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 214946
ClinVar RCV Id: RCV000197927
dbSNP Id: rs863224155
MyVariant Identifiers: chrX:g.19377143_19377169del (hg19) chrX:g.19359025_19359051del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.19359025_19359051del , CM000685.2:g.19359025_19359051del GRCh38
NC_000023.10:g.19377143_19377169del , CM000685.1:g.19377143_19377169del GRCh37
NC_000023.9:g.19287064_19287090del NCBI36
NG_016781.1:g.20133_20159del
NG_021184.1:g.161212_161238del

Transcript Alleles

HGVS Amino-acid change
ENST00000355808.10:c.1029+1_1029+27del
ENST00000379805.4:c.*700+1_*700+27del
ENST00000417819.6:c.1092+1_1092+27del
ENST00000423505.6:c.1122+1_1122+27del
ENST00000481733.2:n.803+1_803+27del
ENST00000696704.1:c.*340+1_*340+27del
ENST00000696705.1:c.*463+1_*463+27del
ENST00000422285.7:c.1008+1_1008+27del
ENST00000379804.1:c.165+1_165+27del
ENST00000379806.9:c.1122+1_1122+27del
ENST00000422285.6:c.1008+1_1008+27del
ENST00000478795.1:n.447+1_447+27del
ENST00000540249.5:c.915+1_915+27del
ENST00000545074.5:c.1029+1_1029+27del
NM_000284.3:c.1008+1_1008+27del
NM_001173454.1:c.1122+1_1122+27del
NM_001173455.1:c.1029+1_1029+27del
NM_001173456.1:c.915+1_915+27del
XM_011545531.1:c.1143+1_1143+27del
XM_011545532.1:c.1050+1_1050+27del
XM_017029574.2:c.1029+1_1029+27del
NM_000284.4:c.1008+1_1008+27del
NM_001173454.2:c.1122+1_1122+27del
NM_001173455.2:c.1029+1_1029+27del
NM_001173456.2:c.915+1_915+27del
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